Gamma-aminobutyric acid is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. This gene encodes subunit alpha-4, which is involved in the etiology of autism and eventually increases autism risk through interaction with another subunit, gamma-aminobutyric acid receptor beta-1 . Alternatively spliced transcript variants encoding different isoforms have been found in this gene.
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Protein Aliases: GABA(A) receptor subunit alpha-4; GABA(A) receptor, alpha 4; gamma-aminobutyric acid (GABA) A receptor, alpha 4; gamma-aminobutyric acid A receptor alpha 4; Gamma-aminobutyric acid receptor subunit alpha-4
Gene Aliases: GABRA4
UniProt ID: (Human) P48169
Entrez Gene ID: (Human) 2557